发布求助
文献互助 智能选刊 最新文献

BMJ Case Reports最新文献

筛选
英文 中文
Seizures caused by a solitary fibrous tumour of the pleura: an unusual presentation of Doege-Potter syndrome.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-262770
Awdhah Alhajeri, Syed Faisal Hashmi, Eustace Fontane
{"title":"Seizures caused by a solitary fibrous tumour of the pleura: an unusual presentation of Doege-Potter syndrome.","authors":"Awdhah Alhajeri, Syed Faisal Hashmi, Eustace Fontane","doi":"10.1136/bcr-2024-262770","DOIUrl":"https://doi.org/10.1136/bcr-2024-262770","url":null,"abstract":"<p><p>Doege-Potter syndrome (DPS) is a rare condition that causes hypoinsulinaemic hypoglycaemia due to solitary fibrous tumours (SFTs). This case report details the treatment of a man in middle adulthood (ages 40-65) diagnosed with DPS after experiencing syncope and vasovagal episodes, which led to the discovery of a large mass in the pleura. Following various diagnostic tests confirming the SFT, the patient required anticonvulsant therapy and glucose infusions due to recurrent seizures and severe hypoglycaemia prior to surgery. After the surgical removal of the tumour, both hypoglycaemia and the need for anticonvulsants were resolved. This case highlights the importance of considering DPS in patients with unexplained hypoglycaemia and intrathoracic masses. It concludes that surgical resection is the preferred treatment for SFTs associated with DPS, offering a favourable prognosis, and emphasises the need for regular follow-up to monitor for potential recurrence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Proliferative glomerulonephritis with monoclonal immunoglobulin deposits masquerading as renal-specific thrombotic microangiopathy.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264201
Hayley J Duxbury, Vincent W Lee, Fiona Kwok, Seethalakshmi Viswanathan
{"title":"Proliferative glomerulonephritis with monoclonal immunoglobulin deposits masquerading as renal-specific thrombotic microangiopathy.","authors":"Hayley J Duxbury, Vincent W Lee, Fiona Kwok, Seethalakshmi Viswanathan","doi":"10.1136/bcr-2024-264201","DOIUrl":"10.1136/bcr-2024-264201","url":null,"abstract":"<p><p>Proliferative glomerulonephritis with monoclonal immunoglobulin deposits is a form of monoclonal gammopathy of renal significance that can rarely co-occur with thrombotic microangiopathy (TMA). We report a rare case in a patient who presented with nephrotic syndrome, in whom the renal biopsy showed TMA and underlying granular electron-dense deposits predominantly along the subendothelial aspect of the glomerular basement membrane and mesangium. Immunofluorescence performed on proteinase-digested formalin-fixed, paraffin-embedded sections showed IgG3 kappa light chain restriction. Further clinical, radiologic and haematologic investigations showed no evidence of any underlying neoplastic B-cell or plasma cell clone. Following multidisciplinary team input, the patient was treated with bortezomib and plasma exchange, allowing long-term clinical stabilisation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11973544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2025-264974
Sumit Randhir Singh, Prateek Nishant, Sai Bhakti Mishra, Sony Sinha
{"title":"Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars.","authors":"Sumit Randhir Singh, Prateek Nishant, Sai Bhakti Mishra, Sony Sinha","doi":"10.1136/bcr-2025-264974","DOIUrl":"10.1136/bcr-2025-264974","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bedside repair of scrotoschisis with local anaesthesia for a neonate with bilateral testicular evisceration.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2025-265022
Jared Miguel Duldulao, Syed Hamza Kazmi, Ramesh Muthukumar, Mark A Faasse
{"title":"Bedside repair of scrotoschisis with local anaesthesia for a neonate with bilateral testicular evisceration.","authors":"Jared Miguel Duldulao, Syed Hamza Kazmi, Ramesh Muthukumar, Mark A Faasse","doi":"10.1136/bcr-2025-265022","DOIUrl":"https://doi.org/10.1136/bcr-2025-265022","url":null,"abstract":"<p><p>Scrotoschisis is a congenital opening in the scrotal wall that allows extrusion of one or both testicles. We describe a newborn male who was found to have exteriorisation of both testes through a 2 cm midline defect in the anterior wall of the scrotum. Both testes were stained with meconium. Repositioning of the testes and repair of the scrotal wall was performed at the bedside with local anaesthesia a few hours after birth. This case highlights the potential for standardisation of this approach, in contrast to most prior reports that involved surgical intervention with general anaesthesia. We also note that the 5-0 chromic gut horizontal mattress sutures used for scrotal closure resulted in multiple suture tracts, suggesting the need to consider more rapidly absorbing suture material and/or a different closure technique.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Electrodiagnostic studies in the diagnosis of Hirayama disease: a focus on early identification.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-261822
Yogesh Kumar, Anand Rai, Athira Sindhu Bhuvanachandran, Nirangjhana Sivasubramanian
{"title":"Electrodiagnostic studies in the diagnosis of Hirayama disease: a focus on early identification.","authors":"Yogesh Kumar, Anand Rai, Athira Sindhu Bhuvanachandran, Nirangjhana Sivasubramanian","doi":"10.1136/bcr-2024-261822","DOIUrl":"https://doi.org/10.1136/bcr-2024-261822","url":null,"abstract":"<p><p>Hirayama disease is a rare neurological disorder primarily affecting young males. This condition poses diagnostic challenges due to its subtle onset and progressive nature. Recognising the importance of early diagnosis is crucial to implementing timely interventions and improving patient outcomes. While Hirayama disease is considered rare, its exact prevalence remains unclear due to under-diagnosis and variability in presentation. Reported cases are more common in certain regions, notably East Asia, but occurrences have been documented worldwide. Despite its rarity, the impact of Hirayama disease on affected individuals can be significant, warranting increased awareness among healthcare professionals.The key message of this case report is to highlight the utility of electrodiagnostic studies, particularly electromyography and F wave analysis, in aiding the diagnosis of Hirayama disease. By emphasising the significance of recognising specific electromyographic patterns, this report aims to facilitate early identification and intervention, thereby improving patient management and quality of life.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Isolated eyelid milia presenting as systemic sarcoidosis.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2025-265502
Carson Clabeaux, Mary C Casey, Jared Heller, Vladamir S Yakopson
{"title":"Isolated eyelid milia presenting as systemic sarcoidosis.","authors":"Carson Clabeaux, Mary C Casey, Jared Heller, Vladamir S Yakopson","doi":"10.1136/bcr-2025-265502","DOIUrl":"https://doi.org/10.1136/bcr-2025-265502","url":null,"abstract":"<p><p>Sarcoidosis is a systemic granulomatous disease with variable clinical presentations, frequently involving the lungs, lymph nodes and skin. Ocular manifestations are common; however, isolated eyelid involvement, particularly in the form of milia, has yet to be reported. This case report highlights a patient presenting with eyelid milia as the sole ocular finding of systemic sarcoidosis. The case underscores the importance of recognising atypical presentations of systemic diseases, incorporating appropriate diagnostic investigations and initiating timely management to prevent complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal diagnosis of limb and chest wall lymphangiomas.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-02 DOI: 10.1136/bcr-2024-264679
Carolina Gomes-Pires, Ana Andrade, Maria Silva Ferreira, Luís Guedes-Martins
{"title":"Prenatal diagnosis of limb and chest wall lymphangiomas.","authors":"Carolina Gomes-Pires, Ana Andrade, Maria Silva Ferreira, Luís Guedes-Martins","doi":"10.1136/bcr-2024-264679","DOIUrl":"https://doi.org/10.1136/bcr-2024-264679","url":null,"abstract":"<p><p>Fetal lymphangiomas are benign tumours that arise from abnormalities in the development of the lymphoid system. They mostly present on the neck and rarely appear on the limbs and chest wall (2-5%). We are reporting two cases of rare and isolated lymphangiomas diagnosed by prenatal ultrasound in the second and third trimesters. In both cases, adequate counselling, ultrasound surveillance until delivery and postnatal referral were provided. Prenatal diagnosis of lymphangiomas is essential to establish the prognosis, decide the route of delivery and guide a postnatal multidisciplinary approach.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rupture of Abdominal Aortic Aneurysm due to Listeria Monocytogenes infection.
IF 0.6
BMJ Case Reports Pub Date : 2025-04-01 DOI: 10.1136/bcr-2024-263531
Sara Mørup, Kristina Langholz Kristensen, Michael Strøm
{"title":"Rupture of Abdominal Aortic Aneurysm due to <i>Listeria Monocytogenes</i> infection.","authors":"Sara Mørup, Kristina Langholz Kristensen, Michael Strøm","doi":"10.1136/bcr-2024-263531","DOIUrl":"https://doi.org/10.1136/bcr-2024-263531","url":null,"abstract":"<p><p>Infective native aortic aneurysms (INAA) caused by <i>Listeria monocytogenes</i> are rare, with most cases involving <i>Streptococcus</i> sp. We report a case of a woman in her mid-60s who presented with a contained rupture of an infrarenal abdominal aortic aneurysm (AAA) due to <i>Listeria</i> The woman presented with intermittent abdominal and lower back pain, malaise, nausea, elevated inflammatory markers and ketoacidosis. CT angiography revealed a 40 mm AAA with inflammation and rupture. Intravenous ampicillin and gentamicin were initiated, and emergency open aortic repair was performed. Cultures confirmed <i>Listeria</i> infection. Postoperative neurological symptoms resolved, and the patient improved with continued antibiotics. One month postoperatively, she was asymptomatic with normalised inflammatory markers. This case underscores the rarity of <i>Listeria</i>-induced aneurysms and highlights the need for international registries to guide the management of INAA and further research on optimal surgical management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Detection of nocturnal hypoxaemia leading to a diagnosis of COPD and PiMZ alpha-1 antitrypsin deficiency.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-263933
Salah Daghlas, Sheridan Evans, Rachel Holder, Sheila McGreevy
{"title":"Detection of nocturnal hypoxaemia leading to a diagnosis of COPD and PiMZ alpha-1 antitrypsin deficiency.","authors":"Salah Daghlas, Sheridan Evans, Rachel Holder, Sheila McGreevy","doi":"10.1136/bcr-2024-263933","DOIUrl":"https://doi.org/10.1136/bcr-2024-263933","url":null,"abstract":"<p><p>Alpha-1 antitrypsin deficiency (AATD) is underdiagnosed, with a significant gap between documented cases and estimated prevalence. Attempts to bridge this gap include published guidelines emphasising the importance of screening for AATD and educational campaigns directed to the public. Early detection has clinical ramifications for optimal management of the patient with AATD, as well as for prevention of clinical disease in affected family members through early modification of environmental factors. Our case report describes a patient with minimally symptomatic chronic obstructive pulmonary disease with AATD, diagnosed in large part due to the patient detecting nocturnal hypoxaemia on her smartwatch. This highlights the emerging role of patient-initiated wearable health technology in diagnosing clinical conditions before traditional symptoms are significant, thus opening another potential avenue for bridging the gap between documented cases of AATD and the estimated prevalence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
First in-human use of super large-bore novel 0.092-inch catheter positioned in M1 segment of middle cerebral artery for aspiration thrombectomy.
IF 0.6
BMJ Case Reports Pub Date : 2025-03-31 DOI: 10.1136/bcr-2024-264039
Amol Mehta, Jennifer Morgan Watchmaker, Preethi Reddi, Shahram Majidi
{"title":"First in-human use of super large-bore novel 0.092-inch catheter positioned in M1 segment of middle cerebral artery for aspiration thrombectomy.","authors":"Amol Mehta, Jennifer Morgan Watchmaker, Preethi Reddi, Shahram Majidi","doi":"10.1136/bcr-2024-264039","DOIUrl":"https://doi.org/10.1136/bcr-2024-264039","url":null,"abstract":"<p><p>An octogenarian patient with a medical history of hypertension and prior stroke (baseline modified Rankin Scale score of 1) presented with acute onset left-sided hemiplegia and neglect and was found to have a right middle cerebral artery M1 occlusion, likely from an embolic clot as there was no hint of intracranial atherosclerosis or dissection in the CT scan. He underwent emergent EVT using direct aspiration technique via a novel super large-bore 0.092-inch ID catheter, which was positioned in the M1 segment. This is the first clinical report of using a 0.092-inch ID catheter in the M1 segment, which resulted in full recanalisation (thrombolysis in cerebral infarction score 3 (TICI3)) of the artery without any adverse events. The patient had significant early clinical improvement, and a follow-up imaging revealed a relatively small infarct size and no haemorrhagic complications. Utilisation of super large-bore 0.092-inch ID catheter for direct aspiration in proximal large vessel occlusion might further optimise the efficacy of the aspiration pass by increasing the aspiration force and inducing local flow arrest.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信